Keyword
Diamond-Blackfan anemia
| Definition | Protein which, if defective, causes Diamond-Blackfan anemia, a rare congenital non-regenerative hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. |
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| Synonyms |
Aase syndrome
Aase-Smith syndrome II
Blackfan-Diamond disease
Blackfan-Diamond syndrome
BDS
Congenital erythroid hypoplastic anemia
Congenital hypoplastic anemia of Blackfan and Diamond
Chronic congenital aregenerative anemia
DBA
Erythrogenesis imperfecta
Pure red cell aplasia
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| Category |
› Disease
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| Graphical | 
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